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Atrioventricular block and diastolic dysfunction in a patient with Sanfilippo C
Ikuo Misumi1, Shoji Chikazawa, Takateru Ishitsu
1Department of Cardiology, Kumamoto Saishunsou Hospital, Koushi. misumi@saisyunsou1.hosp.go.jp
Internal Medicine (Tokyo, Japan)
|November 5, 2010
Summary
Sanfilippo C syndrome, a rare genetic disorder, can lead to serious cardiac issues like bradycardia and atrioventricular block. This case highlights Sanfilippo syndrome complications including heart rhythm problems and diastolic dysfunction.
Area of Science:
- Cardiology
- Genetics
- Rare Diseases
Background:
- Sanfilippo syndrome is a rare lysosomal storage disorder.
- It is caused by defects in heparan sulfate degradation.
- Sanfilippo C syndrome specifically involves a deficiency in heparan sulfate sulfamidase.
Observation:
- A 39-year-old woman with Sanfilippo C syndrome presented with bradycardia.
- Electrocardiogram revealed a second-degree atrioventricular block, necessitating pacemaker implantation.
- Transthoracic echocardiogram showed moderate mitral regurgitation due to mitral valve prolapse and a high E/e' ratio.
Findings:
- The patient exhibited left ventricular diastolic dysfunction.
- Sanfilippo C syndrome was complicated by conduction disturbances and mitral regurgitation.
- This represents a rare clinical presentation of Sanfilippo syndrome.
Implications:
- This case underscores the importance of cardiac evaluation in Sanfilippo syndrome patients.
- Early detection and management of cardiac complications are crucial.
- Further research into the cardiac manifestations of Sanfilippo syndrome is warranted.
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